{"Name":"Lucey-Driscoll syndrome","DiseaseID__c":"GARD:0002791","id":2791,"encodedName":"lucey-driscoll-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Lucey-Driscoll syndrome","Xref_IDs__c":"47444008; C0270210; C562692; MEDGEN:75718; MONDO:0009383; OMIM:237900; ORPHA:2312","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:2312","Disease_Description__c":"A rare genetic hepatic disease characterized by very high serum bilirubin levels in a newborn, clinically presenting as jaundice during the first few days of life. The condition is usually self-resolving, although in some cases it can lead to kernicterus with corresponding symptoms (including lethargy, high-pitched crying, hypotonia, missing reflexes, vomiting, or seizures, among others), which may result in chronic disability and even death.","GARD_Name__c":"Lucey-Driscoll syndrome","GARD_Synonym__c":"hblrtfn; hyperbilirubinemia, familial transient neonatal; transient familial neonatal hyperbilirubinemia","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Transient familial neonatal hyperbilirubinemia is a rare genetic liver disease that can happen to newborn babies. It causes high levels of bilirubin in the blood, which can make the baby's skin and eyes look yellow (jaundice) during the first few days of life. Usually, the condition goes away on its own, but in some cases, it can lead to a more serious condition called kernicterus (brain damage resulting from high levels of bilirubin). This can cause symptoms like being very tired, crying in a high-pitched way, having weak muscles, missing reflexes, throwing up, or having seizures. Kernicterus can cause long-term problems or even death.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:2312","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009383","ORPHANET_ID__c":"ORPHA:2312","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hiperbilirrubinemia transitoria neonatal familiar","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"hiperbilirrubinemia transitoria neonatal familiar","Spanish_GARD_Synonym__c":"síndrome de lucey-driscoll","Category_Linearization__c":"ORPHA:57146","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Transient familial neonatal hyperbilirubinemia is a rare genetic liver disease that can happen to newborn babies. It causes high levels of bilirubin in the blood, which can make the baby's skin and eyes look yellow (jaundice) during the first few days of life. Usually, the condition goes away on its own, but in some cases, it can lead to a more serious condition called kernicterus (brain damage resulting from high levels of bilirubin). This can cause symptoms like being very tired, crying in a high-pitched way, having weak muscles, missing reflexes, throwing up, or having seizures. Kernicterus can cause long-term problems or even death.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"hblrtfn; hyperbilirubinemia, familial transient neonatal; transient familial neonatal hyperbilirubinemia","Name":"Lucey-Driscoll syndrome","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2312"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0270210"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002791","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/237900","Source__c":"C0270210; MONDO:0009383; ORPHA:2312","Xref__c":"OMIM:237900"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C562692","Source__c":"MONDO:0009383","Xref__c":"C562692"},{"URL__c":"https://www.orpha.net/en/disease/detail/2312","Source__c":"C0270210; MONDO:0009383; ORPHA:2312","Xref__c":"ORPHA:2312"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0270210","Source__c":"C0270210","Xref__c":"C0270210"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=75718","Source__c":"C0270210","Xref__c":"MEDGEN:75718"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009383","Source__c":"GARD:0002791","Xref__c":"MONDO:0009383"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=47444008","Source__c":"C0270210","Xref__c":"47444008"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"UGT1A1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ugt1a1","Gene_Type__c":"other","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:237900","Feature__r":{"HPO_Description__c":"Damage to cerebral nuclei caused in infants by highly increased levels of unconjugated bilirubin. The basal ganglia and brainstem nuclei could be shown to have a yellow staining historically in infants who died of kernicterus, that is, kernicterus is strictly speaking a pathological diagnosis. The presence of kernicterus may be inferred in infants with characteristic acute or chronic bilirubin-induced neurological dysfunction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001343","HPO_Name__c":"Kernicterus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:237900","Feature__r":{"HPO_Description__c":"Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000952","HPO_Synonym__c":"Icterus; Jaundice; Yellow skin; Yellowing of the skin","HPO_Name__c":"Jaundice","Feature_System__c":"Skin System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:237900","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008176","HPO_Name__c":"Neonatal unconjugated hyperbilirubinemia","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology"],"Specialist":["Genetics","Gastroenterology","Pediatrics"]},"synonyms":["hblrtfn"," hyperbilirubinemia, familial transient neonatal"," transient familial neonatal hyperbilirubinemia"]}